Metadata | |
---|---|
ID | DOID:0110356 |
Name | retinitis pigmentosa 18 |
Definition | A retinitis pigmentosa that has_material_basis_in mutation in the PRPF3 gene on chromosome 1q21. https://www.ncbi.nlm.nih.gov/pubmed/11773002 |
Xrefs | |
Synonyms |
RP18 [EXACT] |
Parent Relationships |
is_a autosomal dominant disease is_a retinitis pigmentosa |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |